Wednesday, April 18, 2012

The story describes the search for unidentified gene mutations that may cause unexplained forms of intellectual disability.

This scientific ‘hunt' around the world is made to sound very exciting, but the reasons for undertaking it — the potential benefits and outcomes for real people that justify the enormous investment — are a bit murky.

The article notes that in most cases identifying the mutations won't translate into treatment or cures.

However, a scientist quoted says a specific genetic diagnosis is important to parents who haven’t known the ‘why’ of their child’s intellectual disability for years.

For those of you who have a child with intellectual disability — or physical disability for that matter — is that true? How does knowing that my child’s disability results from a mutation in gene x or gene y enable me to improve the life of my child in the here and now? How does parroting an exotic-sounding mutation or rearrangement change one iota the quality of my child’s life — or of the public’s understanding and acceptance of him?

When Ben was three days old, our pediatrician told us that knowing the genetic basis of a particular syndrome, when rare, didn’t often offer up any practical knowledge about interventions that could benefit the child or family. Not enough people had these syndromes to entice drug and other companies to research related treatments.

In our case, having a diagnosis for Ben's rare genetic condition did help me find other families on international genetic bulletin boards who had valuable practical information to share. But I don't think that's what these scientists are after.

Knowing the genetic 'why' didn't help me feel better or help me better support my child — in and of itself.

The Nature article refers to intellectual disability as a disease, but I don’t see it that way. I see it as a different way of experiencing life that is marginalized by mainstream society — in the same way that being gay, being a woman, being black, or being old have been stigmatized.

My son’s intellectual disability does not make him ill. It makes it harder for him to learn in conventional ways. I would never romanticize it, but I would not say it is without advantages. For example, my son is not capable of the deception of ‘image’ that blocks most people with average or Einstein intelligence from truly knowing each other.

Earlier this month I read a fascinating article about Autism Awareness Day in Neurotribes, a blog by investigative and science reporter Steve Silberman.

Silberman questions how dollars are allocated in autism research, noting most go into the ‘hunt’ for a genetic or environmental cause and cure — not to improving the lives of millions of adults living with autism.

"No matter where you stand on the rising numbers, there is one undeniably shocking thing about them," Silberman writes. "Once that 1-in-88 kid grows to adulthood, our society offers little to enable him or her to live a healthy, secure, independent, and productive life in their own community. When kids on the spectrum graduate from high school, they and their families are often cut adrift — left to fend for themselves in the face of dwindling social services and even less than the meager level of accommodations available to those with other disabilities.

Meanwhile, the lion’s share of the money raised by star-studded “awareness” campaigns goes into researching potential genetic and environmental risk factors — not to improving the quality of life for the millions of autistic adults who are already here, struggling to get by. At the extreme end of the risks they face daily is bullying, abuse, and violence, even in their own homes.

…What could be done to make the world a more comfortable, respectful, and nurturing place for millions of autistic kids and adults – now, starting today?”

I think that should be the starting point for investment in research for all types of disability, including intellectual disability: How will this research benefit the lives of people living with these conditions today? Unfortunately, improving the lives of people who are devalued in our culture is a much messier and complicated undertaking than a tracking a gene change in a lab.

Yes, we have to look to the future. But there needs to be a balance between research that has the potential to benefit people decades from now — and when we're talking rare disorders, it's hard to imagine there being a market to drive that kind of research, ever — and research that makes a difference to people today.

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comments:

I think it's only natural to search for answers around why your child has an intellectual or physical disability.For me a big part of it was a fear of the unknown -- how would I be able to handle these unexpected issues if I didn't even know what it was that I would be dealing with?Our son was born with Pierre Robin Sequence and a cleft palate. We thought that was all we'd be contending with until he was about 16 months old.When we made the gradual discovery that he had 'global developmental delay' I spent many hours on-line trying to find out what that term actually meant and why he had it. Searching for answers became a coping mechanism for me.One of my greatest fears was (and still is somewhat) that I was in some way responsible for him having a disability. He had breathing issues and 'failure to thrive' when he was first born. As a first time mom, I was horrified to think that he may have gotten brain damage because I didn't act quickly enough to get him the help he needed. Linking his intellectual disability to a genetic disorder would free me of my guilt and of the dreaded feeling that I hadn't done enough for him in those early weeks after he was born.When he was a baby we did have some genetic testing done. My son's test results were negative for syndromes that can occur alongside Pierre Robin Sequence. But we were no further ahead in getting answers about his intellectual disability.To this day my eight year old son has never been given a genetic diagnosis. We may never know why he has an intellectual disability and is non-verbal.Over the years I've learned, and come to terms with the fact, that a diagnosis wouldn't change anything. We will continue to give my son whatever we can to help him reach his full potential and live a fulfilling life.

Hi Stacey -- I'm so glad you wrote and it is great to see you here again!

I agree with you that it's natural to ask 'why' your child has a specific disability. I think the tendency to feel 'responsible' however, is more common among women.

My husband never agonized over how he might have 'contributed' to our son's genetic condition whereas I agonized for the first couple of years about whether I had somehow 'caused' it even though we were told it was a spontaneous genetic change at conception: a random mistake during cell division.

After much thought, I came to the realization that I couldn't stand that it was totally random. It was easier to somehow think I had done something than to think that this random 'error' had occurred to my child and to us as his parents -- good people. If I had caused it, there was some kind of control -- whereas I couldn't wrap my head around something happening randomly.

I can see how in your case because the intellectual disability is not associated with your son's genetic condition (Pierre Robin), it leads you to question how it could have happened -- in the context of: "Did I do something?"

Two things. My son also had "Failure to thrive" -- which, by its name, somehow implies that we are not nourishing our children. In fact, in my son's case (and I bet in your son's case), he had a different growth trajectory than typical kids because of his genetic condition. He grew much, much slower. He wasn't failing to thrive. He was simply growing on a different timetable.

Have you spoken to a geneticist or other doctor about your fears? I bet you they would say they are completely unfounded.

I totally get what you're saying about parents wanting an answer to relieve themselves from guilt that they could have done something to prevent it.

My piece was looking more at a ton of money being poured into a 'hunt' to find rare, single-gene mutations that could cause intellectual disability -- even though identifying those genes won't lead to treatments (because they are too rare).

Meanwhile, there are so many kids and adults with intellectual disability who could benefit from research into how to improve their lives -- but the money doesn't go to that. It's much "sexier" to be on the hunt for a 'cure,' even though the likelihood of a cure is almost nil even if the mutation is identified.

I was thinking that parents of children with unexplained intell disability were probably told that it was most likely the result of an unidentified mutation. So that they were already being given the suggestion that it was genetic. But that identifying the specific mutation wasn't going to in any way help them or their child.

But I do get the need of parents like us to not feel guilty.

And that would be my gift to you if I could give it. Because when I see you with your son, I know you give him the best care always. And I'm sure you did during his early weeks too. xo

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